LOCUS       NM_026116               2647 bp    mRNA    linear   ROD 20-OCT-2024
DEFINITION  Mus musculus Bardet-Biedl syndrome 2 (Bbs2), mRNA.
ACCESSION   NM_026116
VERSION     NM_026116.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2647)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 2647)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2647)
  AUTHORS   Husson,H., Bukanov,N.O., Moreno,S., Smith,M.M., Richards,B.,
            Zhu,C., Picariello,T., Park,H., Wang,B., Natoli,T.A., Smith,L.A.,
            Zanotti,S., Russo,R.J., Madden,S.L., Klinger,K.W., Modur,V. and
            Ibraghimov-Beskrovnaya,O.
  TITLE     Correction of cilia structure and function alleviates multi-organ
            pathology in Bardet-Biedl syndrome mice
  JOURNAL   Hum Mol Genet 29 (15), 2508-2522 (2020)
   PUBMED   32620959
  REMARK    GeneRIF: Correction of cilia structure and function alleviates
            multi-organ pathology in Bardet-Biedl syndrome mice.
REFERENCE   4  (bases 1 to 2647)
  AUTHORS   Hsu,Y., Garrison,J.E., Seo,S. and Sheffield,V.C.
  TITLE     The absence of BBSome function decreases synaptogenesis and causes
            ectopic synapse formation in the retina
  JOURNAL   Sci Rep 10 (1), 8321 (2020)
   PUBMED   32433491
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2647)
  AUTHORS   Collin,G.B., Gogna,N., Chang,B., Damkham,N., Pinkney,J., Hyde,L.F.,
            Stone,L., Naggert,J.K., Nishina,P.M. and Krebs,M.P.
  TITLE     Mouse Models of Inherited Retinal Degeneration with Photoreceptor
            Cell Loss
  JOURNAL   Cells 9 (4), 931 (2020)
   PUBMED   32290105
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2647)
  AUTHORS   Laurier,V., Stoetzel,C., Muller,J., Thibault,C., Corbani,S.,
            Jalkh,N., Salem,N., Chouery,E., Poch,O., Licaire,S., Danse,J.M.,
            Amati-Bonneau,P., Bonneau,D., Megarbane,A., Mandel,J.L. and
            Dollfus,H.
  TITLE     Pitfalls of homozygosity mapping: an extended consanguineous
            Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10),
            three mutations, but no triallelism
  JOURNAL   Eur J Hum Genet 14 (11), 1195-1203 (2006)
   PUBMED   16823392
REFERENCE   7  (bases 1 to 2647)
  AUTHORS   Nishimura,D.Y., Fath,M., Mullins,R.F., Searby,C., Andrews,M.,
            Davis,R., Andorf,J.L., Mykytyn,K., Swiderski,R.E., Yang,B.,
            Carmi,R., Stone,E.M. and Sheffield,V.C.
  TITLE     Bbs2-null mice have neurosensory deficits, a defect in social
            dominance, and retinopathy associated with mislocalization of
            rhodopsin
  JOURNAL   Proc Natl Acad Sci U S A 101 (47), 16588-16593 (2004)
   PUBMED   15539463
  REMARK    GeneRIF: mice lacking Bbs2 gene expression have phenotypes
            associated with cilia dysfunction, including retinopathy, renal
            cysts, male infertility, and a deficit in olfaction
REFERENCE   8  (bases 1 to 2647)
  AUTHORS   Badano,J.L., Ansley,S.J., Leitch,C.C., Lewis,R.A., Lupski,J.R. and
            Katsanis,N.
  TITLE     Identification of a novel Bardet-Biedl syndrome protein, BBS7, that
            shares structural features with BBS1 and BBS2
  JOURNAL   Am J Hum Genet 72 (3), 650-658 (2003)
   PUBMED   12567324
REFERENCE   9  (bases 1 to 2647)
  AUTHORS   Mykytyn,K., Nishimura,D.Y., Searby,C.C., Beck,G., Bugge,K.,
            Haines,H.L., Cornier,A.S., Cox,G.F., Fulton,A.B., Carmi,R.,
            Iannaccone,A., Jacobson,S.G., Weleber,R.G., Wright,A.F., Riise,R.,
            Hennekam,R.C., Luleci,G., Berker-Karauzum,S., Biesecker,L.G.,
            Stone,E.M. and Sheffield,V.C.
  TITLE     Evaluation of complex inheritance involving the most common
            Bardet-Biedl syndrome locus (BBS1)
  JOURNAL   Am J Hum Genet 72 (2), 429-437 (2003)
   PUBMED   12524598
REFERENCE   10 (bases 1 to 2647)
  AUTHORS   Nishimura,D.Y., Searby,C.C., Carmi,R., Elbedour,K., Van
            Maldergem,L., Fulton,A.B., Lam,B.L., Powell,B.R., Swiderski,R.E.,
            Bugge,K.E., Haider,N.B., Kwitek-Black,A.E., Ying,L., Duhl,D.M.,
            Gorman,S.W., Heon,E., Iannaccone,A., Bonneau,D., Biesecker,L.G.,
            Jacobson,S.G., Stone,E.M. and Sheffield,V.C.
  TITLE     Positional cloning of a novel gene on chromosome 16q causing
            Bardet-Biedl syndrome (BBS2)
  JOURNAL   Hum Mol Genet 10 (8), 865-874 (2001)
   PUBMED   11285252
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC131733.3 and AC138118.4.
            
            On Jun 14, 2018 this sequence version replaced NM_026116.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF342737.1, AK010779.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164131 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-274               AC131733.3         32918-33191         c
            275-502             AC131733.3         27077-27304         c
            503-628             AC131733.3         24444-24569         c
            629-691             AC131733.3         23785-23847         c
            692-769             AC131733.3         22059-22136         c
            770-874             AC131733.3         21513-21617         c
            875-961             AC131733.3         21338-21424         c
            962-1097            AC131733.3         17038-17173         c
            1098-1237           AC131733.3         16680-16819         c
            1238-1382           AC131733.3         15707-15851         c
            1383-1554           AC131733.3         15450-15621         c
            1555-1684           AC131733.3         14165-14294         c
            1685-1816           AC138118.4         636-767
            1817-1954           AC138118.4         2459-2596
            1955-2067           AC138118.4         3315-3427
            2068-2216           AC138118.4         7609-7757
            2217-2647           AC138118.4         9337-9767
FEATURES             Location/Qualifiers
     source          1..2647
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="8"
                     /map="8 46.14 cM"
     gene            1..2647
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /note="Bardet-Biedl syndrome 2"
                     /db_xref="GeneID:67378"
                     /db_xref="MGI:MGI:2135267"
     exon            1..274
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             158..2323
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /note="Bardet-Biedl syndrome 2 protein homolog"
                     /codon_start=1
                     /product="BBSome complex member BBS2"
                     /protein_id="NP_080392.1"
                     /db_xref="CCDS:CCDS40434.1"
                     /db_xref="GeneID:67378"
                     /db_xref="MGI:MGI:2135267"
                     /translation="MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQAGKVFIHN
                     PHTRSQHFSASRVFQSPLESDVSLLNINQTVSCLGSGVLNPELGYDTLLVGTQTSLLA
                     YDIYNNSDLFYREVSDGANAIVLGTLGDIAPPLAIIGGNCALQGFDHEGNDLFWTVTG
                     DNVHSLALCDFDGDGKTELLVGSEDFDIRVFKEDEIVAEMTETEIVTSLCPMYGSRFG
                     YALSNGTVGVYDKTARYWRIKSKNHAMSIHAFDINSDGVCELITGWSNGKVDARSDRT
                     GEVIFKDNFSSAVAGVVEGDYRMDGHVQLICCSVDGEIRGYLPGTAEMKGNLLDTSVE
                     QDLIRELSQKKQNLLLELRNYEESTKAELSSPLNEADGQKGIIPANTRLHTALSVNMG
                     NDLQDAHAELGISTSNDTIIRAVLIFAEGIFVGESHVVHPSIHNLSSSLRVPITPPKD
                     VPVDLHLKTFVGYRSSTQFHVFELTRQLPRFTMYALTSPDAASEPVSYVNFSVAERTQ
                     RMVTWLNQNFLLPEDSNVQNSPFHVCFTSLRNGGQLYIKMKQSGEITVNTDDIDLAGD
                     IIQSIASFFAIEDLQVEADFPVYFEELRKVLVKVDEYHSVHQKLSADMADNSNLIRSL
                     LVRAEDARLMRDMKTMKSRYMELYDLNKDLLNGYKIRCNNHTELLGNLKAVNQAIQRA
                     GRLRVGKPKNQVISACRDAIRSNNINTLFRIMRVGTAPS"
     exon            275..502
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            503..628
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            629..691
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            692..769
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            770..874
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            875..961
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            962..1097
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1098..1237
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..1382
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1383..1554
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1555..1684
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1685..1816
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1817..1954
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1955..2067
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            2068..2216
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            2217..2647
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2626..2631
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /note="hexamer: AATAAA"
     polyA_site      2641
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /note="major polyA site"
ORIGIN      
        1 gctctagtct gcgcttccgg cgccgggcct gtggcgttcc gcagtcctgc gtgtatttac
       61 ctcctactcc tcatccgctg ctaggcaacc ggccggccaa gctgcttgcc ttgcgcctgc
      121 gtcgggcatc tgtcttccgc ccctagctgg cgccatcatg ctgctgcctg tgttcactct
      181 gaaactgcgc cacaaaatca gcccccgcat ggtggccata gggcgctacg acgggactca
      241 cccgtgcttg gctgccgcca cccaagcggg caaggttttc attcataacc ctcacacgcg
      301 gagccagcat ttcagtgctt ccagagtgtt ccagagccct ctggagtctg atgtctctct
      361 gctcaacatt aaccagacgg tcagctgcct gggttcggga gtcttgaacc ctgagcttgg
      421 ctatgatact cttttagtgg ggacacagac cagtcttttg gcttacgaca tctacaataa
      481 ttcagatttg ttctacagag aggtctcaga tggggcaaat gccattgtgc tggggaccct
      541 gggagacatt gccccacctc ttgcaatcat cggtggaaac tgtgctctgc agggtttcga
      601 tcacgaagga aatgatctct tttggacggt tactggagac aatgtgcatt ccttggctct
      661 gtgtgacttt gacggtgatg ggaagacaga gcttcttgtt ggatctgaag attttgacat
      721 tcgagttttt aaagaagatg agattgtggc agaaatgaca gagacagaga tagtcacctc
      781 tctgtgtcct atgtatggca gtcggtttgg ttacgccctt tctaatggca cagttggagt
      841 ttatgacaaa acagcccggt actggagaat taaatccaaa aaccatgcca tgagcatcca
      901 tgcttttgac attaattctg atggagtgtg tgaactgata accgggtggt ctaatgggaa
      961 ggttgatgct cgcagtgacc ggactggaga ggtcatattt aaagacaact tctcttctgc
     1021 tgttgctggt gtggtagagg gagattaccg gatggatggc cacgtacagt taatctgctg
     1081 ctcagtggat ggggaaatcc gaggctacct gccaggcaca gctgagatga aggggaacct
     1141 cctggacaca agtgtggagc aggacctgat ccgagagctg agtcagaaaa agcagaacct
     1201 gttgctagaa cttcgcaact atgaggagag caccaaggca gaactgagca gtcccctgaa
     1261 cgaggccgat gggcagaaag gcataatccc agccaatacc aggctccaca cagcgctctc
     1321 agtcaatatg gggaatgact tacaagatgc gcatgcggaa ttaggcattt ccacttccaa
     1381 tgatactatc atccgagcag tactaatttt tgcagaggga atttttgtgg gtgaaagcca
     1441 tgtggtccac cccagcattc acaacctttc cagctccctc cgggtaccaa ttacacctcc
     1501 caaagatgtc cctgtggatc tgcacctgaa aaccttcgtg ggttacagaa gcagcaccca
     1561 gttccatgtg tttgaactga caagacagct gccccgattc accatgtatg cattgacaag
     1621 cccagatgca gctagcgagc ctgtcagcta cgtgaacttc agtgttgccg agcgcacaca
     1681 gaggatggtc acgtggctca accagaactt tctgttgcca gaagacagta acgttcagaa
     1741 ttccccgttt cacgtctgtt tcacatcgtt acgcaatggt ggccagctct acataaaaat
     1801 gaaacaaagt ggtgagatca ctgtgaatac tgacgatatt gatctagctg gtgacatcat
     1861 ccagtcgatc gcgtcctttt ttgctattga agaccttcag gtagaagcag atttccctgt
     1921 gtacttcgag gaactacgga aagtgctggt gaaggtggat gagtatcatt cagtgcatca
     1981 aaagctcagc gccgacatgg ctgataattc taacctcatc cgaagtttgc tggtcagagc
     2041 ggaggatgct cggctgatga gggacatgaa aacaatgaag agtcgttaca tggagctcta
     2101 tgaccttaat aaagatttgc tgaatggata caagattcgc tgtaacaacc acacagaact
     2161 gctaggaaac ctgaaggcgg tgaaccaagc aatccaaaga gcaggccgtc tgcgcgttgg
     2221 aaagccaaag aaccaggtga tcagtgcttg tcgggatgcg attcgaagca acaacatcaa
     2281 caccctcttc agaatcatgc gagtgggcac tgctccttca taggagacag ggaaagagga
     2341 aggaagcccc tgcaaaaggt ctagacacgg agcctggctg gctcccgatc acagcctggg
     2401 catccagctg ctaaggatga aaccatgcta actgatacag ctaaggacaa agcactccgg
     2461 ctgaaagcct ccttcattga tatcagtggt gttgctgatt tgtatcttaa aatatatcac
     2521 catttcagaa tttaacttgt ttttgtacat aaagttagtg tatgaattta ttccccccga
     2581 aattgttact gaaatttaaa atggagtacc tactttttca ttaaaaataa aaggcactgg
     2641 tcttcct
//
